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Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/32159
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dc.contributor.authorHapp, Hannah C-
dc.contributor.authorSadleir, Lynette G-
dc.contributor.authorZemel, Matthew-
dc.contributor.authorde Valles-Ibáñez, Guillem-
dc.contributor.authorHildebrand, Michael S-
dc.contributor.authorMcConkie-Rosell, Allyn-
dc.contributor.authorMcDonald, Marie-
dc.contributor.authorMay, Halie-
dc.contributor.authorSands, Tristan-
dc.contributor.authorAggarwal, Vimla-
dc.contributor.authorElder, Christopher-
dc.contributor.authorFeyma, Timothy-
dc.contributor.authorBayat, Allan-
dc.contributor.authorMøller, Rikke S-
dc.contributor.authorFenger, Christina D-
dc.contributor.authorKlint Nielsen, Jens Erik-
dc.contributor.authorDatta, Anita N-
dc.contributor.authorGorman, Kathleen M-
dc.contributor.authorKing, Mary D-
dc.contributor.authorLinhares, Natalia D-
dc.contributor.authorBurton, Barbara K-
dc.contributor.authorParas, Andrea-
dc.contributor.authorEllard, Sian-
dc.contributor.authorRankin, Julia-
dc.contributor.authorShukla, Anju-
dc.contributor.authorMajethia, Purvi-
dc.contributor.authorOlson, Rory J-
dc.contributor.authorMuthusamy, Karthik-
dc.contributor.authorSchimmenti, Lisa A-
dc.contributor.authorStarnes, Keith-
dc.contributor.authorSedláčková, Lucie-
dc.contributor.authorŠtěrbová, Katalin-
dc.contributor.authorVlčková, Markéta-
dc.contributor.authorLaššuthová, Petra-
dc.contributor.authorJahodová, Alena-
dc.contributor.authorPorter, Brenda E-
dc.contributor.authorCouque, Nathalie-
dc.contributor.authorColin, Estelle-
dc.contributor.authorProuteau, Clément-
dc.contributor.authorCollet, Corinne-
dc.contributor.authorSmol, Thomas-
dc.contributor.authorCaumes, Roseline-
dc.contributor.authorVansenne, Fleur-
dc.contributor.authorBisulli, Francesca-
dc.contributor.authorLicchetta, Laura-
dc.contributor.authorPerson, Richard-
dc.contributor.authorTorti, Erin-
dc.contributor.authorMcWalter, Kirsty-
dc.contributor.authorWebster, Richard-
dc.contributor.authorGerard, Elizabeth E-
dc.contributor.authorLesca, Gaetan-
dc.contributor.authorSzepetowski, Pierre-
dc.contributor.authorScheffer, Ingrid E-
dc.contributor.authorMefford, Heather C-
dc.contributor.authorCarvill, Gemma L-
dc.date2022-
dc.date.accessioned2023-02-14T04:27:47Z-
dc.date.available2023-02-14T04:27:47Z-
dc.date.issued2023-02-07-
dc.identifier.citationNeurology 2023; 100(6)en_US
dc.identifier.issn1526-632X-
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/32159-
dc.description.abstractKCNH5 encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate the neurodevelopmental and epilepsy phenotypic spectrum associated with de novo KCNH5 variants.en_US
dc.language.isoeng-
dc.titleNeurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.en_US
dc.typeJournal Articleen_US
dc.identifier.journaltitleNeurologyen_US
dc.identifier.affiliationMedicine (University of Melbourne)en_US
dc.identifier.affiliationEpilepsy Research Centreen_US
dc.identifier.doi10.1212/WNL.0000000000201492en_US
dc.type.contentTexten_US
dc.identifier.orcid0000-0002-8266-266Xen_US
dc.identifier.pubmedid36307226-
dc.description.volume100-
dc.description.issue6-
dc.description.startpagee603-
dc.description.endpagee615-
dc.subject.meshtermssecondaryEpilepsy/genetics-
dc.subject.meshtermssecondaryEpilepsy, Generalized/genetics-
dc.subject.meshtermssecondarySeizures/genetics-
local.name.researcherHildebrand, Michael S
item.openairetypeJournal Article-
item.cerifentitytypePublications-
item.grantfulltextnone-
item.fulltextNo Fulltext-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.languageiso639-1en-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptMedicine (University of Melbourne)-
crisitem.author.deptEpilepsy Research Centre-
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